論文 - 長谷川　奉延

Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in Japan.

Maeda E, Higashi T, Hasegawa T, Yokoya S, Mochizuki T, Ishii T, Ito J, Kanzaki S, Shimatsu A, Takano K, Tajim T, Tanaka H, Tanahashi Y, Teramoto A, Nagai T, Hanew K, Horikawa R, Yorifuji T, Wada N, Tanaka T.

BMC Health Services Research  16   602 2016年

研究論文（学術雑誌）, 共著, 査読有り

A case of transient neonatal diabetes due to a novel mutation in ABCC8.

Takagi M, Takeda R, Yagi H, Ariyasu D, Fukuzawa R, Hasegawa T.

Clin Pediatr Endocrinol  25   139-141 2016年

研究論文（学術雑誌）, 共著, 査読有り

The distribution and cellular lineages of XX and XY cells in gonads associated with ovotesticular disorder of sexual development.

Nishina-Uchida N, Fukuzawa R, Ishii T, Anaka MR, Hasegawa T, Hasegawa Y.

Sex Dev.  10   185-190 2016年

研究論文（学術雑誌）, 共著, 査読有り

Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield Syndrome.

Takagi M, Miyoshi T, Nagashima Y, Shibata N, Yagi H, Fukuzawa R , Hasegawa T.

Hum Genome Var 3   16034 2016年

研究論文（学術雑誌）, 共著, 査読有り

Long-term clinical course in three patients with MAMLD1 mutations.

Fujisawa Y, Fukami M, Hasegawa T, Uematsu A, Koji M, Ogata T, Muroya K,

Endocrine J 63   835-839 2016年

研究論文（学術雑誌）, 共著, 査読有り

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation.

Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, Sato S.

Clin Pediat Endocrinol  25   127-134 2016年

研究論文（学術雑誌）, 共著, 査読有り

A Novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.

Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, Hasegawa T.

Clin Endocrinol 85   669-671 2016年

研究論文（学術雑誌）, 共著, 査読有り

Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.

Ishii T, Fukuzawa R, Sato T, Muroya K, Adachi M, Ihara K, Igaki J, Hasegawa Y, Sato S, Mitsui T, Hasegawa T.

Eur J Endocrinol 175   127-132 2016年

研究論文（学術雑誌）, 共著, 査読有り

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S,Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Mastumoto N, Hasegawa T.

Nat Genet 48   792-797 2016年

研究論文（学術雑誌）, 共著, 査読有り

Potential utility of cinacalcet as a treatment for CDC73-1 related primary hyperparathyroidism: a case report.

Sato T, Muroya K, Hanakawa J, Yamashita S, Nozawa K, Masudo K, Yamanaka T, Asakura Y, Hasegawa T. Adachi M.

Clin Pediatr Endocrinol 25   91-98 2016年

研究論文（学術雑誌）, 共著, 査読有り

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y.

Am J Med Gent A  170   1088-1091 2016年

研究論文（学術雑誌）, 共著, 査読有り

Women with Turner syndrome are at high risk of lifestyle-related disease –From questionnaire surveys by the Foundation for Growth Science in Japan.

Hanew K, Tanaka T, Horikawa R, Hasegawa T, Fujita K, Yokoya S.

Endocrine J  63   449-456 2016年

研究論文（学術雑誌）, 共著, 査読有り

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

Tanaka T, Igarashi Y, Ozono K, Ohyama K, Ogawa M, Osada H, Onigata K, Kanzaki S, Kohno H, Seino Y, Takahashi H, Tajima T, Tachibana K, Tanaka H, Nishi Y, Hasegawa T, Fujita K, Yorifuji T, Horikawa R, Yokoya S

Clin Pediatr Endocrinol 24 （ 4 ） 3167 - 3173 2015年10月

Distinguishing from primary from secondary delta4-3-oxisteroid 5-reductase (SRD5B1, AKR1D1) deficiencyby urinary ateroid analysis.

Yanagi T, Mizuochi T, Homma K, Ueki I, Seki Y, Hasegawa T, Takei H, Nittono H, Kurosawa T, Matsuishi T, Kimura A

Clin Endocrinol 82   346 - 351 2015年

共著

Pseudodominant Inheritance in a Family with Non-autoimmune Hypothyroidism due to Biallelic DUOX2 Mutations.

Abe K, Narumi S, Suwanai AS, Hamajima T, Hasegawa T

Clin Endocrinol 83   394 - 398 2015年

共著

Elevated levels of plasma immunoassayable aldosterone in a mild form of 17-hydroxylaase/17,20-lyase deficiency diagnosed at the age of 50.

Ueda K, Usui T, Watanabe T, Kaneko K, Nakatani R, Kakita-Kobayashi M, Tanase-Nakao K, Nanba K, Tsuiki M, Tagami T, Naruse M, Toyoda Y, Homma K, Hasegawa T, Shimatsu A

AACE Clin Case Reports 1   e156 - e160 2015年

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Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-prppeptide region of COL1A1.

Takagi M, Matsushita M, Nishimura G, Hasegawa T

Human Genome Variation 1   14025 2015年

共著

Trends in thin body stature among Japanese female adolescents, 2003 to 2012.

Inokuchi M, Matsuo N, Takayama JI, Hasegawa T

Ann Hum Biol. 42   533 - 537 2015年

共著

Heterozygous defects in PAX6 gene and congenital hypopituitarism.

Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T

Eur J Endocrinol 172   37 - 45 2015年

共著

Waist Circumference centiles by age and sex for Japanese children based on the 1978-1981 cross-sectional national survey data.

Anzo M, Inokkuchi M, Matsuo N, Takayama JI, Hasegawa T

Ann Hum Biol 42   56 - 61 2015年

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